Table IV.
Summary information of 46-point mutations in the cohort.
| Primer mutations | Incidence (%) | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Indexa | Gene | SNP | Total variants | Patients (n=275) | 11778 | 14484 | 3460 | Controls (n=281) | Patients | Controls |
| 1 | MT-ND1 | 3316G>A | 15 | 11 | 7 | 1 | 0 | 4 | 4.00 | 1.42 |
| 2 | 3376G>A | 0 | 0 | 0 | 0 | 0 | 0 | 0.00 | 0.00 | |
| 3 | 3394T>C | 19 | 11 | 7 | 0 | 0 | 8 | 4.00 | 2.85 | |
| 4 | 3460G>A | 2 | 2 | 0 | 0 | 2 | 0 | 0.73 | 0.00 | |
| 5 | 3497C>T | 14 | 7 | 4 | 0 | 0 | 7 | 2.55 | 2.50 | |
| 6 | 3571C>T | 11 | 5 | 3 | 0 | 0 | 6 | 1.82 | 2.14 | |
| 7 | 3635G>A | 1 | 1 | 0 | 0 | 0 | 0 | 0.36 | 0.00 | |
| 8 | 3700G>A | 0 | 0 | 0 | 0 | 0 | 0 | 0.00 | 0.00 | |
| 9 | 3733G>A | 1 | 1 | 0 | 0 | 0 | 0 | 0.36 | 0.00 | |
| 10 | 3866T>C | 4 | 4 | 1 | 0 | 0 | 0 | 1.45 | 0.00 | |
| 11 | 4025C>T | 1 | 1 | 0 | 0 | 0 | 0 | 0.36 | 0.00 | |
| 12 | 4171C>A | 0 | 0 | 0 | 0 | 0 | 0 | 0.00 | 0.00 | |
| 13 | 4216T>C | 11 | 3 | 0 | 0 | 0 | 8 | 1.09 | 2.85 | |
| 14 | MT-ND2 | 4640C>A | 0 | 0 | 0 | 0 | 0 | 0 | 0.00 | 0.00 |
| 15 | 5244G>A | 0 | 0 | 0 | 0 | 0 | 0 | 0.00 | 0.00 | |
| 16 | MT-ATP6 | 9101T>C | 0 | 0 | 0 | 0 | 0 | 0 | 0.00 | 0.00 |
| 17 | MT-CO3 | 9804G>A | 2 | 1 | 1 | 0 | 0 | 1 | 0.36 | 0.36 |
| 18 | MT-ND3 | 10237T>C | 0 | 0 | 0 | 0 | 0 | 0 | 0.00 | 0.00 |
| 19 | MT-ND4L | 10663T>C | 0 | 0 | 0 | 0 | 0 | 0 | 0.00 | 0.00 |
| 20 | 10680G>A | 0 | 0 | 0 | 0 | 0 | 0 | 0.00 | 0.00 | |
| 21 | MT-ND4 | 11253T>C | 1 | 1 | 1 | 0 | 0 | 0 | 0.36 | 0.00 |
| 22 | 11696G>A | 18 | 12 | 10 | 1 | 0 | 6 | 4.36 | 2.14 | |
| 23 | 11778G>A | 162 | 162 | 162 | 0 | 0 | 0 | 58.90 | 0.00 | |
| 24 | MT-ND5 | 12338T>C | 19 | 5 | 2 | 0 | 0 | 14 | 1.82 | 4.98 |
| 25 | 12811T>C | 21 | 14 | 12 | 0 | 0 | 7 | 5.09 | 2.49 | |
| 26 | 12848C>T | 0 | 0 | 0 | 0 | 0 | 0 | 0.00 | 0.00 | |
| 27 | 13051G>A | 0 | 0 | 0 | 0 | 0 | 0 | 0.00 | 0.00 | |
| 28 | 13528A>G | 0 | 0 | 0 | 0 | 0 | 0 | 0.00 | 0.00 | |
| 29 | 13637A>G | 0 | 0 | 0 | 0 | 0 | 0 | 0.00 | 0.00 | |
| 30 | 13730G>A | 0 | 0 | 0 | 0 | 0 | 0 | 0.00 | 0.00 | |
| 31 | MT-ND6 | 14279G>A | 0 | 0 | 0 | 0 | 0 | 0 | 0.00 | 0.00 |
| 32 | 14325T>C | 2 | 0 | 0 | 0 | 0 | 2 | 0.00 | 0.71 | |
| 33 | 14482C>A | 0 | 0 | 0 | 0 | 0 | 0 | 0.00 | 0.00 | |
| 34 | 14482C>G | 0 | 0 | 0 | 0 | 0 | 0 | 0.00 | 0.00 | |
| 35 | 14484T>C | 25 | 25 | 0 | 25 | 0 | 0 | 9.10 | 0.00 | |
| 36 | 14495A>G | 0 | 0 | 0 | 0 | 0 | 0 | 0.00 | 0.00 | |
| 37 | 14498T>C | 0 | 0 | 0 | 0 | 0 | 0 | 0.00 | 0.00 | |
| 38 | 14502T>C | 18 | 11 | 8 | 3 | 0 | 7 | 4.00 | 2.49 | |
| 39 | 14568C>T | 0 | 0 | 0 | 0 | 0 | 0 | 0.00 | 0.00 | |
| 40 | 14596A>T | 0 | 0 | 0 | 0 | 0 | 0 | 0.00 | 0.00 | |
| 41 | MT-CYB | 14831G>A | 5 | 1 | 0 | 0 | 0 | 4 | 0.36 | 1.42 |
| 42 | 15812G>A | 1 | 0 | 0 | 0 | 0 | 1 | 0.00 | 0.36 | |
| 43 | MT-TM | 4435A>G | 0 | 0 | 0 | 0 | 0 | 0 | 0.00 | 0.00 |
| 44 | MT-TT | 15951A>G | 5 | 3 | 1 | 2 | 0 | 2 | 1.09 | 0.71 |
| 45 | MT-TE | 14693A>G | 5 | 4 | 3 | 1 | 0 | 1 | 1.45 | 0.36 |
| 46 | 14727T>C | 0 | 0 | 0 | 0 | 0 | 0 | 0.00 | 0.00 | |
| Total | 162b | 25c | ||||||||
| variants | 363 | 285 | (60) | (8) | 2 | 78 | 103.64 | 27.76 | ||
a
The index number is according to Table I
b
162 subjects carrying the m.11778G>A mutation, of which 60 subjects were carrying the m.11778G>A and one of the secondary variants
c
25 subjects carrying the m.14484T>C mutation, of which 8 subjects were carrying the m.14484T>C and a secondary variant. The three common mutations for LHON are emboldened. SNP, single nucleotide polymorphism.